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rs199472818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472818(C;C)
Make rs199472818(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2847777
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472818
ebirs199472818
HLIrs199472818
Exacrs199472818
Varsomers199472818
Maprs199472818
PheGenIrs199472818
hapmaprs199472818
1000 genomesrs199472818
hgdprs199472818
ensemblrs199472818
gopubmedrs199472818
geneviewrs199472818
scholarrs199472818
googlers199472818
pharmgkbrs199472818
gwascentralrs199472818
openSNPrs199472818
23andMers199472818
23andMe allrs199472818
SNP Nexus

SNPshotrs199472818
SNPdbers199472818
MSV3drs199472818
GWAS Ctlgrs199472818
Max Magnitude0
ClinVar
Risk rs199472818(C;C)
Alt rs199472818(C;C)
Reference rs199472818(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2869007T>C
CLNSRC ClinVar
CLNACC RCV000057642.2,